The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR). The CMDIR registers individuals with congenital muscular dystrophy, congenital myopathy and extends to the limb girdle and late onset spectrum for both disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. The registry includes demographic, disease specific and diagnostic questions. Key care parameters are surveyed longitudinally by proxy and/or patient report, confirmed by medical records. Genetic reports are curated by a board certified genetic counselor with support provided to families to pursue molecular confirmation through referrals to national centers of excellence.

Study hypothesis:

To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases.

The congenital muscle diseases include both congenital muscular dystrophy and congenital myopathy across the limb girdle and late onset spectrum. For data collection and analysis, subtype specific reports will be generated. True incidence of congenital muscular dystrophy and congenital myopathy is unknown. Current incidence and prevalence numbers for the congenital muscular dystrophies are based on a 1996 Italian population survey prior to molecular diagnostic testing with incidence (1/21,500) and prevalence (1/125,000).

Detailed Description:

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year observational study to identify care and trend key care parameters and adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR). The CMDIR registers individuals with and without genetic confirmation who have been given a clinical diagnosis of congenital muscular dystrophy through limb girdle spectrum, and congenital myopathy through late onset spectrum. The CMDIR is currently translated into 5 languages: French, German, Spanish, English and Portuguese with plans to add Chinese, Italian, Danish and Japanese.

Identifying care parameters and adverse events in the rare genetic neuromuscular diseases can be difficult. Care is fragmented, genetic confirmation may not be prioritized by the medical community or covered by medical insurance and patients are scattered globally with potential challenges aggregating data across centers. Natural history studies are currently being launched. However, potential biases to participation include recruitment of the less severely affected patients given difficulty traveling secondary to a medically fragile condition. There is currently no treatment for these conditions; though optimizing and standardizing care and care delivery can promote significant gains in quality of life and survival. Identifying disease specific care parameters and correlating those parameters with adverse event rates will not only contribute to the development of evidence based guidelines but inform clinically meaningful outcomes for future clinical trials.

Study hypothesis:

To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases.

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01403402